A33D (p.Ala33Asp) variant of AIRE (Autoimmune regulator)
A33D (p.Ala33Asp) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A33D (p.Ala33Asp) variant details
- p.Ala33Asp
- gnomAD 21-44286104-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.78
- MetaLR 0.86
- MetaSVM 0.80
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available